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De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
RARE STRUCTURAL GENOMIC VARIANTS IN NONSYNDROMIC EPILEPTIC ENCEPHALOPATHIES WITH AND WITHOUT MRI- DETECTABLE STRUCTURAL BRAIN ABNORMALITIES
